Canonical Allele Identifier: CA381700482

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435403-G-T
• MyVariant Identifiers: chr11:g.71146449G>T (hg19) ; chr11:g.71435403G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435403G>T , CM000673.2:g.71435403G>T	GRCh38
NC_000011.9:g.71146449G>T , CM000673.1:g.71146449G>T	GRCh37
NC_000011.8:g.70824097G>T	NCBI36
NG_012655.2:g.18029C>A , LRG_340:g.18029C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1400C>A	ENSP00000435707.3:p.Pro467His
ENST00000526780.6:c.1400C>A	ENSP00000435668.2:p.Pro467His
ENST00000527316.6:c.1226C>A	ENSP00000435047.2:p.Pro409His
ENST00000682708.1:c.1451C>A	ENSP00000506866.1:p.Pro484His
ENST00000683287.1:c.1436C>A	ENSP00000507607.1:p.Pro479His
ENST00000683714.1:c.*163C>A	ENSP00000508207.1:n.*163C>A
ENST00000684396.1:n.1440C>A
ENST00000685320.1:c.815C>A	ENSP00000509319.1:p.Pro272His
ENST00000690257.1:c.1304C>A	ENSP00000510750.1:p.Pro435His
ENST00000355527.8:c.1400C>A MANE Select	ENSP00000347717.4:p.Pro467His
ENST00000355527.7:c.1400C>A	ENSP00000347717.3:p.Pro467His
ENST00000407721.6:c.1400C>A	ENSP00000384739.2:p.Pro467His
ENST00000525137.1:c.901C>A	ENSP00000435956.1:n.901C>A
ENST00000533800.5:c.611+39C>A	ENSP00000435011.1:n.611+39C>A
ENST00000534795.5:c.319+2409C>A
NM_001163817.1:c.1400C>A	NP_001157289.1:p.Pro467His
NM_001360.2:c.1400C>A , LRG_340t1:c.1400C>A	NP_001351.2:p.Pro467His
XM_011544777.1:c.*163C>A	XP_011543079.1:n.*163C>A
XM_011544777.2:c.*163C>A	XP_011543079.1:n.*163C>A
NM_001163817.2:c.1400C>A	NP_001157289.1:p.Pro467His
NM_001360.3:c.1400C>A MANE Select	NP_001351.2:p.Pro467His